RESUMO
OBJECTIVES: The aim of the study was to analyze the origin of birth defects in pregnant women from the Kujawy-Pomerania Region, and to identify factors affecting the formation of developmental disorders in the Province. MATERIAL AND METHODS: The correlation between maternal age and fetal defects was investigated. We also attempted to determine whether environmental or family factors play a role in the formation of fetal abnormalities. RESULTS: The analysis confirmed a correlation between the incidence of chromosomal aberrations and maternal age. CONCLUSIONS: Higher rates of neural tube defects were observed in fetuses born to mothers who did not take folic acid. The influence of other factors on developmental anomalies was not confirmed.
Assuntos
Síndrome de Down/epidemiologia , Ácido Fólico/administração & dosagem , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Complexo Vitamínico B/administração & dosagem , Adulto , Transtornos Cromossômicos/epidemiologia , Síndrome de Down/diagnóstico , Síndrome de Down/prevenção & controle , Feminino , Humanos , Incidência , Idade Materna , Pessoa de Meia-Idade , Defeitos do Tubo Neural/prevenção & controle , Polônia/epidemiologia , Gravidez , Complicações na Gravidez/epidemiologia , Estudos Retrospectivos , Fatores de RiscoRESUMO
Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10,000 births. In the following report we have described a prenatally diagnosed case of recurrent thanatophoric dysplasia in the same patient.
Assuntos
Linhagem , Segundo Trimestre da Gravidez/genética , Displasia Tanatofórica/diagnóstico por imagem , Displasia Tanatofórica/genética , Evolução Fatal , Feminino , Humanos , Gravidez , Ultrassonografia Pré-NatalRESUMO
Holoprosencephaly is a brain malformation caused by abnormal division of the forebrain into two separate hemispheres. Abnormal structures of the central nervous system often occur with other midline forebrain and face failures. In this report we present a case of a prenatal diagnosis of holoprosencephaly.
Assuntos
Holoprosencefalia/diagnóstico por imagem , Holoprosencefalia/embriologia , Ultrassonografia Pré-Natal , Adulto , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Gravidez , Terceiro Trimestre da GravidezRESUMO
Smith-Lemli-Opitz syndrome (SLOS) is a hereditary, autosomal recessive abnormality of cholesterol metabolism, leading to malformations of multiple organs. It is probably one of the most frequent metabolic disorders but variable clinical presentation makes the diagnosis of the syndrome difficult. The authors of the following work present a case report of prenatal diagnosis of SLOS in fetus with malformations of multiple organs and negative family history.